P87S (p.Pro87Ser) variant of E2F1 (Transcription factor E2F1)
P87S (p.Pro87Ser) in E2F1 (Transcription factor E2F1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- TOPMed rs2018064922
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.07
- CADD 26.80
- PolyPhen-2 0.45
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available